Submissions for variant NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) (rs267608022)

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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000203618	SCV000107568	likely benign	Lynch syndrome I	2015-11-24	reviewed by expert panel	research
Invitae	RCV000076539	SCV000166276	uncertain significance	Hereditary nonpolyposis colon cancer	2019-12-02	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with arginine at codon 905 of the MSH2 protein (p.Thr905Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs267608022, ExAC 0.003%). This variant has been reported in a family affected with colorectal cancer (PMID: 8880570). ClinVar contains an entry for this variant (Variation ID: 91037). Experimental studies have shown that this missense change does not significantly impact MSH2 activity (PMID: 9774676, 12124176). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV000129528	SCV000184304	uncertain significance	Hereditary cancer-predisposing syndrome	2018-12-03	criteria provided, single submitter	clinical testing	Insufficient evidence
GeneDx	RCV000424772	SCV000518413	likely benign	not specified	2017-08-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000203618	SCV001135763	benign	Lynch syndrome I	2019-05-28	criteria provided, single submitter	clinical testing
Color	RCV000129528	SCV001357010	uncertain significance	Hereditary cancer-predisposing syndrome	2020-01-17	criteria provided, single submitter	clinical testing

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